DIO3 and multiple congenital anomalies due to 14q32.2 maternally expressed gene defect: We previously analyzed several patients with Kagami-Ogata syndrome-like phenotype without upd(14)pat and demonstrated that epimutations (hyper-DNA methylation) of the imprinting control region, the inter-genetic differentially methylated region (IG-DMR) of the DLK1-DIO3 imprinted region and the maternal microdeletion of the IG-DMR also cause Kagami-Ogata syndrome-like phenotypes (Kagami et al., 2008).